X连锁型夏科-马里-图思神经病变的精细基因定位
Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.
作者信息
Fain P R, Barker D F, Chance P F
机构信息
Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City 84108.
出版信息
Am J Hum Genet. 1994 Feb;54(2):229-35.
Abstract
Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56,PGK1).
摘要
对四个患有X连锁型夏科-马里-图斯病（CMTX）的多代家庭进行了基因连锁研究，使用了12个高度多态性的短串联重复序列标记来研究X染色体的着丝粒周围区域。对单个标记进行的成对连锁分析证实了每个家庭中CMTX与着丝粒周围区域紧密连锁。多位点分析有力地支持了DXS337-CMTX-DXS441-（DXS56，PGK1）的顺序。
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